DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of esophagus, C0279626

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs11599672	LOC105378438 ; PLCE1	0.925	0.080	10	93993019	regulatory region variant	T/G	snv		0.21	3
rs11752942	LINC00951 ; TDRG1	0.882	0.080	6	40354019	intron variant	A/G	snv		0.46	3
rs2239815	XBP1	0.925	0.080	22	28796682	non coding transcript exon variant	T/C	snv		0.44	3
rs4822983	CHEK2	0.925	0.080	22	28719078	intron variant	C/T	snv		0.33	3
rs1042026	ADH1B	1.000	0.080	4	99307309	3 prime UTR variant	T/C	snv		0.24	2
rs12263737	PLCE1-AS1 ; PLCE1	1.000	0.080	10	94285156	intron variant	G/A	snv		0.32	2
rs17028973	LOC102723576	1.000	0.080	4	99401629	intergenic variant	T/C	snv		0.21	2
rs197412	DDX20	1.000	0.080	1	111766331	missense variant	T/C	snv	0.43	0.49	2
rs3746803	SLC52A3	1.000	0.080	20	763738	missense variant	G/A;C	snv	0.10; 1.2E-05		2
rs3804329	ATG5	1.000	0.080	6	106238552	intron variant	A/G	snv		0.15	2
rs3805322	ADH4 ; LOC100507053	1.000	0.080	4	99135847	intron variant	A/G	snv		1.1E-02	2
rs3829868	CRNN ; FLG-AS1	0.925	0.080	1	152409644	missense variant	C/T	snv	0.21	0.15	2
rs7242481	ELP2 ; SLC39A6	0.925	0.080	18	36129254	5 prime UTR variant	G/A	snv		0.35	2
rs7578456		1.000	0.080	2	201370625	intergenic variant	A/G	snv		0.57	2
rs759704231	TBCD ; ZNF750	1.000	0.080	17	82830681	missense variant	C/T	snv	4.0E-06	1.4E-05	2
rs8506	TDRG1	1.000	0.080	6	40379813	non coding transcript exon variant	C/T	snv		9.0E-02	2
rs1009316	BAX	1.000	0.080	19	48955313	non coding transcript exon variant	T/C;G	snv			1
rs10138277	HEATR5A	1.000	0.080	14	31393927	intron variant	T/A;C	snv			1
rs1033667	CHEK2	1.000	0.080	22	28734312	intron variant	C/T	snv		0.30	1
rs10882379	LOC105378438	1.000	0.080	10	93991742	intergenic variant	G/A;C	snv			1
rs11187870	NOC3L ; PLCE1	1.000	0.080	10	94328109	3 prime UTR variant	G/C	snv		6.3E-02	1
rs1129186	PEX6	1.000	0.080	6	42964464	synonymous variant	C/T	snv	0.48	0.57	1
rs11677	PLA2G2A	1.000	0.080	1	19975471	3 prime UTR variant	G/A	snv		9.5E-02	1
rs1170595036	SDHC	1.000	0.080	1	161323623	synonymous variant	T/C	snv	4.0E-06		1
rs1206093523	LOC105377015 ; TGFBR2	1.000	0.080	3	30606915	missense variant	C/T	snv	9.2E-06		1